NBK1395 AND genereviews[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5865	NM_001113491.2(SEPTIN9):c.76+12996G>C	SEPTIN9	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic neuralgia	GPathogenic
Select item 5863	NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)	SEPTIN9 (R88W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 5864	NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe)	SEPTIN9 (S93F +3 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic neuralgia	GPathogenic

Format

Sort by

Choose Destination